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Table 1 Clinical data, complementary exams and familial history of patients

From: Absence of subtelomeric rearrangements in selected patients with mental retardation as assessed by multiprobe T FISH

Patients ID MSA COA JOS CCBN MCSF AJSF YPM JPM RBB RoBB YMB WMC JCTFS LBP LAS
File number 622076 537048 486383 568752 616423 561932 537160 537162 569901 569575 565119 379028 491362 577557 578487
Birthday 10/8/1985 19/9/1988 10/9/1992 19/7/1984 26/9/2004 28/1/2002 20/4/1995 20/4/1995 2/9/1997 2/9/1997 28/4/1992 24/6/1989 2/9/1995 13/10/1998 21/9/2001
Gender F F F F F M M M M M M M M M M
BW (g) 2360 3100 2850 3350 2580 2625 2750 3000 2230 3050 3340 3630 2010 1235 2155
BL (cm) 45 45 48 50 48 47 - - - - 48 48 43 39 -
BHC (cm) 31 - - - 32 33 - - - - - - - 31 -
Age (years) 20 17 13 20 115/12 4 10 10 82/12 82/12 13 15 9 6 4
W (kg) 49.5 43.9 67 67.5 29.8 12.5 41.5 39.2 27.5 28 34.4 63.5 23 17 11.3
H (cm) 142 134 156 150 134.5 97.5 137.5 134.5 125 128 137.5 160 121.5 111 100
HC (cm) 50.5 52 52.5 53 51.5 44.5 54 53 51 51 52 58 51 49.5 48
MF Y N N Y N Y N N Y Y N N N Y Y
DD Y Y Y Y Y Y Y Y Y Y Y Y Y Y Y
Dysmorphism Y Y Y Y Y Y Y Y Y Y Y Y Y Y Y
CS N N N N N N N N N N Y Y N N N
FH N N N N Y Y Y Y Y Y Y Y Y Y Y
LD/MR Y/Y Y/Y Y/Y Y/Y Y/Y Y/Y Y/Y Y/Y Y/Y Y/Y Y/Y Y/Y Y/Y Y/Y Y/Y
X fragile NEG - NEG NEG - NEG NEG NEG NEG NEG NEG NEG NEG NEG NEG
NeuroEv Y Y Y Y - Y Y Y Y Y - Y Y Y Y
CCT / MR ANL NL NL NL NL NL NL NL ANL ANL ANL ANL ANL NL ANL
EEG ANL - NL - - ANL NL NL ANL ANL ANL ANL ANL ANL NL
TORCHS NEG NEG NEG NEG NEG NEG NEG NEG NEG NEG NEG NEG ANL NEG NEG
IEM NEG NEG I NEG NEG NEG I I I I NEG NEG NEG NEG I
BERA NL NL NL NL NL - NL NL - - NL NL ANL NL NL
Ophtalmo Ev NL NL NL NL NL NL ANL ANL NL NL NL ANL ANL NL ANL
DeVries 8 5 4 5 7 8 4 5 5 7 6 5 8 8 7
  1. Birth Weight (BW); Birth Length (BL); Birth Head Circumference (BHC); Weight (W); Height (H); Head Circumference (HC); Malformation (MF); Developmental Delay (DD); Consanguinity; (CS) Familial History (FH); Learning Disabilities (LD)/ Mental Retardation (MR); Neurologic Evaluation (NeuroEv); Cranio Computerized Tomography (CCT) or Cranio Magnetic Resonance (CMR); Electroencephalography (EEG); Toxoplasmosis, rubella, citomegalovirus, herpes virus and syphilis sorology (TORCHS); Inborn Erros of Metabolism (IEM); otoacustic potencials evoked evaluation (BERA); Ophtalmo Evaluation (Ophtalmo Ev).
  2. Female (F); Male (M); Yes (Y); No (N); Negative (NEG); Inconclusive (I); Normal (NL); Abnormal (ANL) clinical score (DeVries).